Canonical Allele Identifier: CA2184878452

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218593G= , CM000677.2:g.68218593G=	GRCh38
NC_000015.9:g.68510931G= , CM000677.1:g.68510931G=	GRCh37
NC_000015.8:g.66297985G=	NCBI36
NG_008764.2:g.43619C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.141C= MANE Select	ENSP00000249806.5:p.Leu47=
ENST00000562767.2:c.83+10909C=	ENSP00000456336.1:n.83+10909C=
ENST00000563917.2:n.41-4205C=
ENST00000565471.6:c.84-8834C=	ENSP00000457384.1:n.84-8834C=
ENST00000569336.2:n.50C=
ENST00000635747.1:c.*44C=	ENSP00000490627.1:n.*44C=
ENST00000636020.1:n.273C=
ENST00000636212.1:c.141C=	ENSP00000489851.1:p.Leu47=
ENST00000636314.1:c.84-4205C=	ENSP00000490295.1:n.84-4205C=
ENST00000636876.1:c.*161C=	ENSP00000489950.1:n.*161C=
ENST00000637054.1:c.141C=	ENSP00000490807.1:p.Leu47=
ENST00000637223.1:c.*44C=	ENSP00000490010.1:n.*44C=
ENST00000637329.1:c.52C=
ENST00000637450.1:c.84-4205C=	ENSP00000490204.1:n.84-4205C=
ENST00000637494.1:c.141C=	ENSP00000490057.1:p.Leu47=
ENST00000637667.1:c.141C=	ENSP00000489843.1:p.Leu47=
ENST00000637823.1:c.67C=
ENST00000637888.1:c.141C=	ENSP00000490546.1:p.Leu47=
ENST00000638076.1:c.141C=	ENSP00000490373.1:p.Leu47=
ENST00000638144.1:n.31-4205C=
ENST00000249806.9:c.141C=	ENSP00000249806.5:p.Leu47=
ENST00000538696.5:c.237C=	ENSP00000445770.1:p.Leu79=
ENST00000562767.1:c.83+10909C=	ENSP00000456336.1:n.83+10909C=
ENST00000564752.1:c.141C=	ENSP00000457822.1:p.Leu47=
ENST00000564846.1:n.573C=
ENST00000565471.5:c.84-8834C=	ENSP00000457384.1:n.84-8834C=
ENST00000566347.5:c.141C=	ENSP00000457783.1:p.Leu47=
ENST00000567060.5:c.141C=	ENSP00000454818.1:p.Leu47=
ENST00000569336.1:n.227C=
NM_017882.2:c.141C=	NP_060352.1:p.Leu47=
XR_931861.1:n.244C=
NM_017882.3:c.141C= MANE Select	NP_060352.1:p.Leu47=